Canonical Allele Identifier: CA919020

Gene: NEXN

Linked Data

• ClinVar Variation Id: 518918
• ClinVar RCV Id: RCV000621846 ; RCV001868102
• dbSNP Id: rs747781785
• ExAC: 1:78408498 T / C
• gnomAD v2: 1-78408498-T-C
• gnomAD v3: 1-77942813-T-C
• gnomAD v4: 1-77942813-T-C
• COSMIC: COSM912328
• MyVariant Identifiers: chr1:g.78408498T>C (hg19) ; chr1:g.77942813T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942813T>C , CM000663.2:g.77942813T>C	GRCh38
NC_000001.10:g.78408498T>C , CM000663.1:g.78408498T>C	GRCh37
NC_000001.9:g.78181086T>C	NCBI36
NG_016625.1:g.59299T>C , LRG_442:g.59299T>C
NG_033243.2:g.41281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.2012T>C MANE Select	ENSP00000333938.7:p.Ile671Thr
ENST00000330010.12:c.1820T>C	ENSP00000327363.8:p.Ile607Thr
ENST00000334785.11:c.2012T>C	ENSP00000333938.7:p.Ile671Thr
ENST00000342754.5:c.1711T>C
ENST00000480732.2:n.1586T>C
NM_001172309.1:c.1820T>C	NP_001165780.1:p.Ile607Thr
NM_144573.3:c.2012T>C , LRG_442t1:c.2012T>C	NP_653174.3:p.Ile671Thr
XM_005271322.2:c.2012T>C	XP_005271379.1:p.Ile671Thr
XM_005271323.2:c.1970T>C	XP_005271380.1:p.Ile657Thr
XM_005271324.3:c.1820T>C	XP_005271381.1:p.Ile607Thr
XM_005271325.2:c.1790T>C	XP_005271382.1:p.Ile597Thr
XM_005271326.2:c.1778T>C	XP_005271383.1:p.Ile593Thr
XM_005271327.2:c.1595T>C	XP_005271384.1:p.Ile532Thr
XM_005271322.4:c.2012T>C	XP_005271379.1:p.Ile671Thr
XM_005271323.4:c.1970T>C	XP_005271380.1:p.Ile657Thr
XM_005271324.5:c.1820T>C	XP_005271381.1:p.Ile607Thr
XM_005271325.4:c.1790T>C	XP_005271382.1:p.Ile597Thr
XM_005271326.4:c.1778T>C	XP_005271383.1:p.Ile593Thr
XM_005271327.4:c.1595T>C	XP_005271384.1:p.Ile532Thr
NM_001172309.2:c.1820T>C	NP_001165780.1:p.Ile607Thr
NM_144573.4:c.2012T>C MANE Select	NP_653174.3:p.Ile671Thr